The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
The Future of Genetic Studies of Complex Human Diseases
Abstract
The identification of the genetic basis of complex human diseases such as schizophrenia and diabetes has proven difficult. In their Perspective, Risch and Merikangas propose that we can best accomplish this goal by combining the power of the human genome project with association studies, a method for determining the basis of a genetic disease.
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In the citing paper
“These validated the HLA association but showed no significant linkage to loci outside the MHC.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [27]
In the citing paper
“Recognition that association-based methods, focused on detecting phenotype-related differences in variant allele frequencies might have greater traction for identifying less penetrant common alleles redirected attention to analysis of case–control samples37.”
From A brief history of human disease genetics (2020) · cites this paper as [37]
In the citing paper
“The historical division of disease-gene discovery into monogenic and polygenic strands arose from development and implementation of analytical approaches–family-based linkage and case–control association37–that are best-suited for detecting particular subsets of causal alleles.”
From A brief history of human disease genetics (2020) · cites this paper as [37]
In the citing paper
“Linkage analysis is poorly powered for complex traits (Risch and Merikangas, 1996).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Risch and Merikangas, 1996
In the citing paper
“However, not all approaches to linkage analysis are very powerful, and this is especially true for non-parametric approaches involving small families69, 70, although transmission/disequilibrium tests may have merit in the analysis of rare variants.71”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [70]
Citations
Cites
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679
Genetic Dissection of Complex Traits
Lander, E. S., & Schork, N. J. (1994) · Science · doi:10.1126/science.8091226 · Cited by 3,425
Linkage strategies for genetically complex traits. II. The power of affected relative pairs.
RISCH, N. J. (1990) · PubMed · Cited by 868
Self-citationAssessing the role of HLA-linked and unlinked determinants of disease.
RISCH, N. J. (1987) · PubMed · Cited by 542
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PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
Ogura, Y., Bonen, D. K., Inohara, N., Nicolae, D. L., Chen, F. F., Ramos, R., Britton, H., Moran, T., Karaliuskas, R., Duerr, R. H., et al. (2001) · Nature · doi:10.1038/35079114 · Cited by 5,030
Metadata
- Authors
- Risch, N., & Merikangas, K.
- Affiliations
- Stanford Medicine (US)
- Yale University (US)
- Venue
- Science
- Published
- 1996-09-13
- Volume
- 273
- Issue
- 5281
- Pages
- 1516-1517
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2042103448
- Cited by
- 5,355
- References
- 4
- Citations by year
- 2026: 41 · 2025: 46 · 2024: 73 · 2023: 74 · 2022: 66 · 2021: 70 · 2020: 85 · 2019: 108 · 2018: 92 · 2017: 108 · 2016: 116 · 2015: 114 · 2014: 149 · 2013: 162 · 2012: 190
- FWCI
- 92.45
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- complex diseases, genetic susceptibility, schizophrenia, diabetes mellitus, genome-wide association study, Human Genome Project, genetic basis of disease
- MeSH terms
- Alleles, Genetic Techniques, Genotype, Heterozygote, Humans, Genetic Linkage, Polymorphism, Genetic, Probability, Genome, Human, Genetic Predisposition to Disease, Genetic Diseases, Inborn
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